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M Brar 《Plastic and reconstructive surgery》1990,85(6):996-997
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F Wendt 《Endokrinologie》1972,60(3):347-355
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James O. Hill 《Obesity (Silver Spring, Md.)》2005,13(8):1302-1302
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Koç A Kaymak AO Karaer K Ergün MA Aksu T Perçin EF 《Genetic counseling (Geneva, Switzerland)》2008,19(2):193-198
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case. 相似文献
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